Further delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 31 (2023), Heft Suppl 1, S. 233-234, Artikel EP12.054

Systematische Analyse von microRNA als potenzielle Biomarker im Stuhl und ein neuer Ansatz zur endogenen miRNA-Normalisierung
In: Zeitschrift für Gastroenterologie - Stuttgart [u.a.] : Thieme, Bd. 61 (2023), Heft 8, S. e425

Mikrobiomveränderungen in Gallengangsstents bei Patienten mit Gallengangserkrankungen
In: Die Innere Medizin - Berlin : Springer Medizin, Bd. 64 (2023), Heft Supplement, S. S26, Artikel PS023

Veränderungen des mukosalen Mikrobioms bei Patienten mit Anastomoseninsuffizienz nach Resektion von kolorektalen Karzinomen
In: Zeitschrift für Gastroenterologie - Stuttgart [u.a.] : Thieme, Bd. 61 (2023), Heft 8, S. e512-e513

Congenital and inherited anomalies of the pancreas
In: The pancreas , Fourth edition - Hoboken, NJ : John Wiley & Sons, Inc ; Beger, Hans G. *1936-* . - 2023, S. 23-31

In-vitro-Modellierung der Noonan-Syndrom-assoziierten Kardiomyopathie - Neue Einblicke in die myokardiale Pathophysiologie und Effekte der Inhibition des hyperaktiven RAS/MAPK-Signalwegs - In vitro modeling of Noonan syndrome-associated cardiomyopathy - new insights into the myocardial pathophysiology and effects of inhibition of the hyperactive RAS/MAPK signaling pathway
In: Zeitschrift für Herz-, Thorax- und Gefässchirurgie - Darmstadt : Steinkopff, Bd. 37 (2023), Heft 3/4, S. 164-171

Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy - validation of the HCM risk-kids model and predictors of events
In: International journal of cardiology - Amsterdam [u.a.] : Elsevier Science, Bd. 393 (2023), Artikel 131405, insges. 8 S.

Editorial - endocrine aspects of Noonan syndrome and related syndromes
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 13 (2023), Artikel 1127686, insges. 2 S.

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
In: Brain - Oxford : Oxford Univ. Press, Bd. 146 (2023), Heft 4, S. 1388-1402

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
In: Clinical immunology - San Diego, Calif. : Elsevier, Bd. 256 (2023), Artikel 109777

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
In: Pediatrics and neonatology - [Singapore] : Elsevier, Bd. 64 (2023), Heft 2, S. 208-209

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
In: Nature - London [u.a.] : Nature Publ. Group, Bd. 614 (2023), Heft 7948, S. 564-571

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues
In: Communications biology - London : Springer Nature, Bd. 6 (2023), Artikel 657, insges. 18 S.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1
In: Familial cancer - Dordrecht [u.a.] : Springer Science + Business Media B.V, Bd. 22 (2023), Heft 4, S. 475-480

Clinical outcome and quality of life of multimodal treatment of extracranial arteriovenous malformations - the APOLLON study protocol
In: CardioVascular and interventional radiology - Berlin : Springer, Bd. 46 (2023), Heft 1, S. 142-151

Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum - report of three cases
In: Pediatric dermatology - Oxford [u.a.] : Wiley-Blackwell, Bd. 40 (2023), Heft 4, S. 691-694

Improvement of synaptic plasticity and cognitive function in RASopathies - a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)
In: Trials - London : BioMed Central, Bd. 24 (2023), Artikel 383, insges. 10 S.

Impact of the COVID-19 pandemic regulations on the health status and medical care of children with trisomy 21 - a parent survey in central Germany - Auswirkungen der COVID-19-Pandemie auf Gesundheitszustand und Versorgung von Kindern mit Trisomie 21 - eine Elternbefragung in Mitteldeutschland
In: Klinische Pädiatrie - Stuttgart : Thieme, Bd. 235 (2023), Heft 1, S. 31-37

AKT/mTOR and MAPK inhibition improves childhood RASopathic cardiomyopathy
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 70 (2022), S 02, insges. 2 S.

Staphylococcus aureus and Bifidobacterium longum are well recognized by T-cells with opposite results
In: European journal of immunology - Weinheim : Wiley-VCH, Bd. 52 (2022), Heft Suppl. 1, S. 265, Artikel P 129

Adrenocortical carcinoma (ACC) in an infant with Cushing's syndrome and virilization
In: "Connective (tissue) pathology: was uns verbindet!" - Berlin . - 2022, S. 470-471, Artikel P12.02

Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 30 (2022), Heft Suppl. 1, S. 355-356, Artikel P11.095.A

Recurrent mandibular giant cell lesion in neurofibromatosis type 1 - second hit mutation on the NF1 gene in the osseous lesion
In: Anticancer research - Attiki, 2004, Bd. 42 (2022), 6, S. 2945-2952

Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism
In: JEADV clinical practice - Hoboken, NJ : Wiley, Bd. 1 (2022), Heft 4, S. 416-419

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome - clinical presentation and associations with genotype
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 190 (2022), 4, S. 501-509

Clinical overview on RASopathies
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 190 (2022), 4, S. 414-424

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 43 (2022), 12, S. 1866-1871

Unusual findings in a patient with Carney complex due to a novel PRKAR1A mutation
In: Anticancer research - Attiki, Bd. 42 (2022), 12, S. 6121-6125

Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model
In: Frontiers in cell and developmental biology - Lausanne: Frontiers Media, 2013, Bd. 10 (2022), insges. 13 S.

WARS1 and SARS1 - two tRNA synthetases implicated in autosomal recessive microcephaly
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 43 (2022), 10, S. 1454-1471

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), 12

Noonan syndrome - improving recognition and diagnosis
In: Archives of disease in childhood - London: BMJ Publ. Group, 1926, Bd. 107 (2022), 12, S. 1073-1078

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.

Fatal course of a benign mediastinal lipoblastoma in a 20-year-old woman
In: Pathology, research and practice - München : Elsevier, Bd. 239 (2022), Artikel 154161

Correlation of PET-MRI, pathology, LOH, and surgical success in a case of CHI with atypical large pancreatic focus
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 6 (2022), 6, S. 1-8

The seventh international RASopathies symposium - pathways to a cureexpanding knowledge, enhancing research, and therapeutic discovery
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 188 (2022), 6, S. 1915-1927

A case report - first long-term treatment with burosumab in a patient with cutaneous-skeletal hypophosphatemia syndrome
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.

Outcomes in growth hormone-treated Noonan syndrome children - impact of PTPN11 mutation status
In: Endocrine Connections - Bristol: BioScientifica, 2012, Bd. 11 (2022), 4, insges. 12 S.

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype - a multinational cohort study
In: Genetics in medicine - Amsterdam: Elsevier, 1998, Bd. 24 (2022), 7, S. 1556-1566

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 31 (2022), 1, S. 10-17

Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, 2005, Bd. 65 (2022), 1, insges. 9 S.

Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe - a sub-analysis of a European clinical practice survey
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, 2005, Bd. 65 (2022), 1, insges. 12 S.

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), Heft 5, S. 1-6, Artikel 104472

European Medical Education Initiative on Noonan syndrome - A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, 2005, Bd. 65 (2022), 1, insges. 10 S.

T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation
In: Frontiers in immunology - Lausanne : Frontiers Media, Bd. 13 (2022), Artikel 958616, insges. 15 S.

Gut microbial similarity in twins is driven by shared environment and aging
In: EBioMedicine - Amsterdam [u.a.] : Elsevier, Bd. 79 (2022), Artikel 104011, insges. 13 S.

Profiling of the bacterial microbiota along the murine alimentary tract
In: International journal of molecular sciences - Basel : Molecular Diversity Preservation International, Bd. 23 (2022), Heft 3, Artikel 1783, insges. 15 S.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
In: Human molecular genetics - Oxford: Oxford Univ. Press, 1992, Bd. 31 (2022), 16, S. 2766-2778

Oral HRAS mutation in orofacial nevus sebaceous syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome) - a case report with a literature survey
In: In vivo - Kapandriti, Attiki: IIAR, 2004, Bd. 36 (2022), 1, S. 274-293

Management of endocrine aspects of Noonan syndrome across Europe - a subanalysis of a European clinical practice survey
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 94 (2021), Suppl. 1, S. 133-134

MEK-inhibition treatment with trametinib in a 7.7-year-old girl with Noonan's syndrome and life-threatening lymphangiopathy
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 69 (2021), S02, insges. 1 S.

Noonan syndrome-associated hypertrophic cardiomyopathy caused by a mutation in RIT1 can be partially rescued by inhibition of RAS/MAPK signaling pathway in vitro
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 69 (2021), S01, insges. 1 S.

Opposing effects of Bifidobacterium longum and Staphylococcus aureus after recognition by paediatric T cells
In: European journal of immunology - Weinheim : Wiley-VCH, Bd. 51 (2021), Heft Suppl. 1, S. 350, Artikel P-0880

Cardiac electrophysiological anomalies associated with a Noonan syndrome mutation in RAF1 can be rescued partially in vitro by inhibition of RAS/MAPK signaling pathway
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 69 (2021), S01, insges. 2 S.

The functional effects of the Rasopathy-related KRASV14l mutation in the brain
In: Neuroforum - Berlin: De Gruyter, 2003, Bd. 27 (2021), 1, Supplement, insges. 1 S.

Noonan syndrome patients with short stature at a single pediatric endocrinology centre
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 94 (2021), Suppl. 1, S. 338-339

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 185 (2021), 10, S. 3122-3128

Estimated prevalence of harmful alcohol consumption in pregnant and nonpregnant women in Saxony-Anhalt (NorthEast Germany) using biomarkers
In: Alcoholism - Oxford [u.a.] : Wiley-Blackwell, Bd. 45 (2021), Heft 4, S. 819-827

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 108 (2021), 11, S. 2112-2129

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 185 (2021), 12, S. 3623-3633

Galloway-Mowat syndrome - new insights from bioinformatics and expression during Xenopus embryogenesis
In: Gene expression patterns - Amsterdam [u.a.]: Elsevier, Bd. 42 (2021)

Mutations in PRDM15 are a novel cause of Galloway-Mowat syndrome
In: Journal of the American Society of Nephrology: JASN/ American Society of Nephrology - Washington, DC: American Society of Nephrology, Bd. 32 (2021), 3, S. 580-596

Eye tumors in childhood as first sign of tumor predisposition syndromes - insights from an observational study conducted in Germany and Austria
In: Cancers - Basel: MDPI, 2009, Bd. 13 (2021), 8, insges. 14 S.

Aplasia cutis congenita in a CDC42-related developmental phenotype
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 185 (2021), 3, S. 850-855

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 29 (2021), 1, S. 51-60

Neurofibromatosis type 1 with cherubism-like phenotype, multiple osteolytic bone lesions of lower extremities, and Alagille-syndrome - case report with literature survey
In: In vivo: international journal of experimental and clinical pathophysiology and drug research - Kapandriti, Attiki: IIAR, 2004, Bd. 35 (2021), 3, S. 1711-1736

KRAS mutation in an implant-associated peripheral giant cell granuloma of the jaw - implications of genetic analysis of the lesion for treatment concept and surveillance
In: In vivo: international journal of experimental and clinical pathophysiology and drug research - Kapandriti, Attiki: IIAR, 2004, Bd. 35 (2021), 2, S. 947-953

QRICH1 variants in Ververi-Brady syndrome - delineation of the genotypic and phenotypic spectrum
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 99 (2021), 1, S. 199-207

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
In: Clinical dysmorphology - Hagerstown, Md.: Lippincott Williams & Wilkins, Bd. 30 (2021), 2, S. 83-88

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 29 (2021), Heft 3, S. 524-527

Characterization of the modulatory role of LZTR1 in the control of RAS-MAPK signaling
In: European journal of human genetics - Basingstoke: Stockton Press, 1998, Vol. 28.2020, Suppl. 1, P20.43.A, S. 749

Modelling Johanson-Blizzard syndrome in a dish
In: United european gastroenterology journal : Ueg journal - London : Sage , 2013 - Vol. 8.2020, 8, Suppl., P1031, S. 669

Identification of a germline interstitial deletion in 14q32.13 in a child and mother with DICER1 syndrome
In: European journal of human genetics - Basingstoke: Stockton Press, 1998, Vol. 28.2020, Suppl. 1, P03.20.B, S. 212-213

Hereditäre Nephropathien
In: Rationelle Diagnostik und Therapie in der Inneren Medizin - Leitlinien-basierte Empfehlungen für die Praxis , Stand: Mai 2020 - München : Elsevier , 2020, insges. 8 S. [Stand November 2017]

The sixth international RASopathies symposium - precision medicine : from promise to practice
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 182.2020, 3, S. 597-606

Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum
In: The American journal of human genetics - New York, NY [u.a.] : Cell Press, Bd. 107.2020, 3, S. 499-513

Long-term culture of EBV-induced human lymphoblastoid cell lines reveals chromosomal instability
In: Journal of histochemistry & cytochemistry : JHC - London [u.a.] : Sage Publ., Bd. 68.2020, 4, S. 239-251

Systematized naevoid hypertrichosis may herald HappleTinschert syndrome. Letter to the editor
In: Journal of the European Academy of Dermatology and Venereology : JEADV / European Academy of Dermatology and Venereology - Oxford [u.a.] : Wiley-Blackwell - Bd. 34.2020, 3 S.e149-e151

Mosaic neurofibromatosis type 1 with multiple cutaneous diffuse and plexiform neurofibromas of the lower leg
In: Anticancer research : international journal of cancer research and treatment - Attiki, Bd. 40.2020, 6, S. 3423-3427

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 182.2020, 4, S. 773-779

The mosaic hedgehog spectrum - another lesson on the polymorphy of mosaicism
In: British journal of dermatology : BJD ; the journal of the British Association of Dermatologists - Oxford : Wiley-Blackwell, Bd. 182.2020, 1, S. 22-23

MRI spectrum of brain involvement in sphingosine-1-phosphate lyase insufficiency syndrome
In: American journal of neuroradiology : AJNR - Oak Brook, Ill. : Soc., Bd. 41.2020, 10, S. 1943-1948

KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
In: JCI insight - Ann Arbor, Michigan : JCI Insight - Vol. 5.2020, 21, Art. e140495, insgesamt 17 Seiten

Development, behaviour and sensory processing in MarshallSmith syndrome and Malan syndrome - phenotype comparison in two related syndromes
In: Journal of intellectual disability research : JIDR ; official journal of MENCAP, the International Association for the Scientific Study of Intellectual Disability and the European Association for Mental Health and Mental Retardation - Oxford [u.a.] : Wiley-Blackwell, Bd. 64.2020, 12, S. 956-969

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation
In: Journal of inherited metabolic disease : JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism - Hoboken, NJ : Wiley, Bd. 43.2020, 5, S. 1131-1142

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
In: Wellcome open research - London: Wellcome Trust, 2016, Bd. 4.2020, Art.-Nr. 149, insgesamt 20 Seiten

Pathogenic PTPN11 variants involving the polyglutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation
In: Human mutation - New York, NY [u.a.] : Wiley-Liss, Bd. 41.2020, 6, S. 1171-1182

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 41 (2020), 9, S. 1615-1628

Genetic testing in inherited endocrine disorders - joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
In: Orphanet journal of rare diseases : OJRD - London : BioMed Central - Bd. 15.2020, Art.-Nr. 144, insgesamt 16 Seiten

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 182 (2020), 7, S. 1681-1689

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
In: Human molecular genetics : HMG online - Oxford : Oxford Univ. Press, Bd. 29.2020, 11, S. 1772-1783

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany - a retrospective cohort study
In: British journal of cancer : BJC - Edinburgh : Nature Publ. Group, Bd. 123.2020, 4, S. 619-623

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
In: Nature Communications - [London] : Nature Publishing Group UK - 11(2020) Artikel-Nummer 4625, 12 Seiten [Gesehen am 17.11.2020]

[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, FC9.6, S. 49

Rare diagnosis of autosomal-recessive Pitt-Hopkins-like syndrome 2 by microarray-analysis
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, E-P08.23, Seite 950

Scientific yield of clinical exome sequencing of neurodevelopmental disorders
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P08.74B, Seite 244-245

Identification of novel candidate genes for idiopathic short stature using whole exome sequencing
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P04.83C, Seite 128

Unravelling the genetic architecture in an extensive cohort of Adams-Oliver syndrome patients
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P11.009A, Seite 343-344

Activating mutations of RRAS2 are a rare cause of Noonan syndrome
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 104 (2019), 6, S. 1223-1232

Variants in nuclear factor I genes influence growth and development
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 181.2019, 4, S. 611-626

Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy
In: Cardiovascular Diagnosis and Therapy - Hangzhou, 2011, Bd.9.2019, Suppl. 2, S. S299-S309

ADA2 deficiency in a patient with Noonan syndromelike disorder with loose anagen hair - the cooccurrence of two rare syndromes
In: American journal of medical genetics - New York, NY: Wiley-Liss, Bd. 179.2019, 12, S. 2474-2480

Adams-Oliver syndrome caused by mutations of the EOGT gene
In: American journal of medical genetics - New York, NY: Wiley-Liss, Bd. 179.2019, 11, S. 2246-2251

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd.62.2019, Art.-Nr. 103608

The landscape of epilepsy-related GATOR1 variants
In: Genetics in medicine - Amsterdam: Elsevier, 1998, Bd. 21 (2019), 2, S. 398-408

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome. Letter to the editor
In: Pigment cell & melanoma research - Oxford [u.a.]: Wiley-Blackwell, Bd. 32.2019, 3, S. 470-473

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
In: The journal of biological chemistry - Bethesda, Md.: ASBMB Publications, 1905, Bd. 27 (2019), 7, S. 1061-1071

Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children
In: Genes, chromosomes & cancer - New York, NY: Wiley-Liss, Bd. 58 (2019), 10, S. 723-730

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 28.2019, 6, S. 1007-1022

Genetic basis of hypertrophic cardiomyopathy in children
In: Clinical research in cardiology - Berlin: Springer, Bd. 108.2019, 3, S. 282-289

Identifying facial phenotypes of genetic disorders using deep learning
In: Nature medicine - New York, NY: Nature America Inc., Bd. 25.2019, 1, S. 60-64

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 7.2019, 5, Art.-Nr. e625, insges. 12 S.

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 179.2019, 5, S. 832-836

Cubilin single nucleotide polymorphism variants are associated with macroangiopathy while a matrix metalloproteinase-9 single nucleotide polymorphism flip-flop may indicate susceptibility of diabetic nephropathy in type-2 diabetic patients
In: Nephron - Basel: Karger, Bd. 141.2019, 3, S. 156-165

Food-derived xeno-microRNAs - influence of diet and detectability in gastrointestinal tract : proof-of-principle study
In: Molecular nutrition & food research - Weinheim : Wiley-VCH - Bd. 63.2019, 2, Art.-Nr. 1800076, insges. 11 S.

Germline GAB2 mutations in childhood acute lymphoblastic leukemia
In: Blood - Washington, DC: American Society of Hematology, 1946, Bd. 132.2018, Suppl. 1, S. 388

Atypische Präsentation einer nephropathischen Cystinose mit langsam progredienter Niereninsuffizienz und ausgeprägter Osteomalazie bei einem Patienten syrischer Herkunft
In: Der Internist - Berlin: Springer, Bd. 59.2018, Suppl.1, PS121, Seite S55

Inherited disorders of the Ras-MAPK pathway
In: Blood - Washington, DC: American Society of Hematology, 1946, Bd. 132.2018, Suppl. 1, Abs. SCI-41

Proceedings of the fifth international RASopathies symposium - when development and cancer intersect
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 12, S. 2924-2929

Galloway-Mowat syndrome in Taiwan - OSGEP mutation and unique clinical phenotype
In: Orphanet journal of rare diseases - London: BioMed Central, Bd. 13.2018, Art.-Nr. 226, insges. 9 S.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 2, S. 470-476

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
In: European journal of human genetics : the official journal of the European Society of Human Genetics - Basingstoke : Stockton Press, Bd. 26.2018, 2, S. 197-209

Generation of functional cardiomyocytes from rat embryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture
In: PLOS ONE - San Francisco, California, US: PLOS, 2006, Bd. 13.2018, 3, Art.-Nr. e0192652, insges. 22 S.

ClinGens RASopathy expert panel consensus methods for variant interpretation
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 11, S. 1334-1345

bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling
In: Cell communication and signaling - London : Biomed Central - Bd. 16.2018, Art.-Nr. 96, insges. 14 S.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 9, S. 965-975

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 10, S. 1175-1185

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 103.2018, 5, S. 752-768

Unrecognized juvenile nephropathic cystinosis
In: Kidney international: official journal of the International Society of Nephrology - New York, NY: Elsevier, Bd. 94.2018, 5, S. 1027

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 39.2018, 11, S. 1485-1493

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
In: Nature Communications - [London]: Nature Publishing Group UK, Bd. 9.2018, Art.-Nr. 1960, insges. 14 S.

Functional dysregulation of CDC42 causes diverse developmental phenotypes
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 102.2018, 2, S. 309-320

Further delineation of Malan syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 39 (2018), 9, S. 1226-1237, insges. 12 S.

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 39.2018, 9, S. 1246-1261

Skeletal impairment in Pierson syndrome - is there a role for laminin[beta]2 in bone physiology?
In: Bone - Amsterdam [u.a.]: Elsevier Science, Bd. 106.2018, S. 187-193

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 6, S. 630-638

A postzygotic SMO mutation caused the original case of HappleTinschert syndrome
In: Acta dermato-venereologica: a journal for clinical and experimental research in the field of dermatology and venereology - Uppsala: Acta Dermato-Venereologica, Bd. 98.2018, 5, S. 534-535

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
In: PLoS Genetics - San Francisco, Calif: Public Library of Science, Bd. 14.2018, 5, Art.-Nr. e1007370, insges. 28 S.

Destroying a myth LCLs are neither immortal nor karyotypically stable but acquire trisomy 12 as an early recurrent aberration
In: Molecular cytogenetics - London: BioMed Central, 2008, Bd. 10.2017, Suppl. 1, 8.P4, S. 72

Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling
In: Gut: an international journal of gastroenterology and hepatology - London: BMJ Publishing Group, 1960, Bd. 66.2017, 3, S. 473-486

Barber-Say syndrome and ablepharon-macrostomia syndrome - a patient's view
In: Molecular syndromology - Basel: Karger, 2010, Bd. 8 (2017), 4, S. 172-178

Structural, functional, and clinical characterization of a novel PTPN11 mutation cluster underlying Noonan syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 38 (2017), 4, S. 451-459

Childhood cancer predisposition syndromes - a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 173.2017, 4, S. 1017-1037

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy
In: PLoS Genetics/ Public Library of Science - San Francisco, Calif.: Public Library of Science, 2005, Bd. 13.2017, 3, Art.-Nr. e1006684, insges. 37 S.

Short fragment approach for genotyping KRAS and BRAF genes in Tunisian patients with colorectal cancer
In: International journal of clinical and experimental medicine - Madison, Wis: e-Century Publishing Corporation, 2008, Bd. 10 (2017), 3, S. 5160-5167

Novel FREM1 mutations in a patient with MOTA syndrome - clinical findings, mutation update and review of FREM1-related disorders literature
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 60 (2017), 3, S. 190-194

Genotype and phenotype spectrum of NRAS germline variants
In: European journal of human genetics : the official journal of the European Society of Human Genetics - Basingstoke : Stockton Press, Bd. 25.2017, 7, S. 823-831

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Letters
In: Nature genetics - London: Macmillan Publishers Limited, part of Springer Nature, Bd. 49 (2017), 10, S. 1529-1544

Behavioral and neural manifestations of reward memory in carriers of low-expressing versus high-expressing genetic variants of the dopamine D2 receptor
In: Frontiers in psychology - Lausanne : Frontiers Research Foundation - Bd. 8.2017, Article 654, insges. 13 S.

CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation
In: Cell death and differentiation - Houndmills, Basingstoke : Nature Publishing Group, Bd. 24 (2017), Heft 10, S. 1739-1749

Genetic polymorphisms as predictive markers of response to growth hormone therapy in children with growth hormone deficiency
In: Klinische Pädiatrie - Stuttgart: Thieme, Bd. 229 (2017), 5, S. 267-273

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
In: Scientific reports - [London]: Macmillan Publishers Limited, part of Springer Nature, 2011, Bd. 7.2017, Art.-Nr. 12225, insges. 6 S.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
In: The journal of clinical investigation - Ann Arbor, Mich: ASCJ, 1924, Bd. 127.2017, 3, S. 912-928

Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in JohansonBlizzard syndrome - development of hypothyroidism during infancy
In: Journal of clinical neonatology - Mumbai: Medknow Publ, 2012, Bd. 6 (2017), 3, S. 179-181

Expanding the mutational spectrum in Johanson-Blizzard syndrome - identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 5 (2017), 6, S. 774-780

In vitro modelling of LEOPARD syndrome-associated hypertrophic cardiomyopathy using patient derived induced pluripotent stem cells
In: Cardiac Physiology and Experimental Cardiology Workshop 2016: Freitag 16. September - Samstag 17. September/ Cardiac Physiology and Experimental Cardiology Workshop, 2016 . - 2016, S. 14

Modeling LEOPARD syndrome-associated hypertrophic cardiomyopathy in vitro using patient-derived iPSC cardiomyocytes in 2D and 3D
In: Heart failure: genetics, genomics and epigenetics joint with the meeting on cardiac development, regeneration and repair: April 37, 2016, Snowbird Resort, Snowbird, Utah,| USA, 2016, (2016), Abs. Z2 1012, insges. 1 S.

Simplified culture conditions and scalable cardiac differentiation of rat induced pluripotent stem cells for syngeneic myocardial reconstruction models
In: European surgical research - official journal of the European Society for Experimental Surgery: official journal of the European Society for Experimental Surgery - Basel [u.a.]: Karger, 1969, Bd. 57 (2016), 3/4, S. 325-326

Rat induced pluripotent stem cells for myocardial reconstruction
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 64.2016, S01, Abs. OP263, insges. 1 S.

Oblique facial clefts in JohansonBlizzard syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 170 (2016), 6, S. 1495-1501

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
In: Pediatric nephrology - Berlin: Springer, Bd. 31 (2016), 1, S. 73-81

Remission of congenital hyperinsulinism following conservative treatment - an exploratory study in patients with KATP channel mutations
In: The journal of pediatric endocrinology and metabolism - Berlin [u.a.]: de Gruyter, Bd. 29 (2016), 3, S. 281-287

Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family
In: Clinical dysmorphology - Hagerstown, Md: Lippincott Williams & Wilkins, Bd. 25 (2016), 4, S. 181-185

EPG5-related Vici syndrome - a paradigm of neurodevelopmental disorders with defective autophagy
In: Brain - Oxford: Oxford Univ. Press, 1878, Bd. 139 (2016), 3, S. 765-781, insges. 17 S.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 90 (2016), 4, S. 334-342

Morbus Osler - mehr als nur Nasenbluten
In: Der Internist - Berlin: Springer, 1996, Bd. 57.2016, 6, S. 610-615

STXBP1 encephalopathy - a neurodevelopmental disorder including epilepsy
In: Neurology - Philadelphia, Pa: Wolters Kluwer, Bd. 86 (2016), 10, S. 954-962

RASopathien
In: Medizinische Genetik - Berlin: Springer, 1998, Bd. 28.2016, 1, S. 15-38

AB0 blood type B and fucosyltransferase 2 non-secretor status as genetic risk factors for chronic pancreatitis. Letter
In: Gut: an international journal of gastroenterology and hepatology - London: BMJ Publishing Group, Bd. 65 (2016), 2, S. 353-354

Germline RRAS2 mutations are not associated with Noonan syndrome
In: Journal of medical genetics - London: BMJ Publishing Group, Bd. 53 (2016), 11, S. 728

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
In: Genetics in medicine: official journal of the American College of Medical Genetics - London, UK: Springer Nature, Bd. 18 (2016), 12, S. 1226-1234, insges. 9 S.

Response to Calgani et al.Letter to the editor
In: Genetics in medicine: official journal of the American College of Medical Genetics - London, UK: Springer Nature, 1998, Bd. 18.2016, 12, S. 1321

Loss-of-function variants in HIVEP2 are a cause of intellectual disability
In: European journal of human genetics - Basingstoke: Stockton Press, Bd. 24 (2016), 4, S. 556-561

Surgery in focal congenital hyperinsulinism (CHI) - the Hyperinsulinism Germany International experience in 30 children
In: Pediatric endocrinology reviews: PER diabetes, nutrition, metabolism, genetics - Netanya: Y.S. Medical Media Ltd., Bd. 14 (2016), 2, S. 129-137

Modeling congenital hypertrophic cardiomyopathies with iPS cell-based 3-dimensional bioartificial cardiac tissue
In: The thoracic and cardiovascular surgeon: official organ of the German Society for Thoracic and Cardiovascular Surgery - Stuttgart: Thieme, Bd. 63.2015, S1, OP157, insges. 1 S.

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 2, S. 385-388

Visual pathways in humans with ephrin-B1 deficiency associated with the cranio-fronto-nasal syndrome
In: Investigative ophthalmology & visual science - Rockville, Md: ARVO, 1977, Bd. 56.2015, 12, S. 7427-7437

Das Noonan-Syndrom
In: Lymphologie in Forschung und Praxis: Organ der Deutschen Gesellschaft für Lymphologie (DGL), der Gesellschaft Deutschsprachiger Lymphologen e.V. (GDL) und der Gesellschaft für Manuelle Lymphdrainage nach Dr. Vodder und Sonstige Lymphologische Therapien e.V. (Österreich) (GfMLV) - Köln: Viavital-Verl, Bd. 19.2015, 2, S. 92-98

A novel mutation in the FRAS1 gene in a patient with Fraser syndrome
In: Genetic counseling: medical, psychological and ethical aspects - Genève: Ed. Médecine et Hygiène, Bd. 26 (2015), 1, S. 21-27

Two novel UBR1 gene mutations in a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation
In: Gene: an international journal on genes, genomes and evolution - Amsterdam: Elsevier, Bd. 570 (2015), 1, S. 153-155

Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies
In: Circulation / Cardiovascular genetics - Philadelphia, Pa: Lippincott, Williams & Wilkins, Bd. 8 (2015), 4, S. 572-581

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
In: Journal of the American Society of Nephrology - Washington, DC: American Society of Nephrology, Bd. 26 (2015), 6, S. 1279-1289

Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 97 (2015), 3, S. 475-482

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 36.2015, 6, S. 593-598

Multiple small supernumerary marker chromosomes resulting from maternal meiosis I or II errors
In: Molecular syndromology - Basel: Karger, 2010, Bd. 6.2015, 5, S. 210-221

Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 36 (2015), 11, S. 1080-1087

Copy number variants including RAS pathway genes - How much RASopathy is in the phenotype?
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167.2015, 11, S. 2685-2690

Molecular diversity and associated phenotypic spectrum of germline CBL mutations
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 36 (2015), 8, S. 787-796

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
In: British journal of cancer: BJC - Edinburgh: Nature Publ. Group, Bd. 112.2015, 8, S. 1392-1397

Recurrent mutations in the basic domain of TWIST2 cause Ablepharon macrostomia and Barber-Say syndromes
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 97 (2015), 1, S. 99-110

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo
In: The EMBO journal - Heidelberg: EMBO Press, Bd. 34.2015, 8, S. 1056-1077

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 23.2015, 3, S. 409-412

WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 36 (2015), 11, S. 1021-1028

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
In: The journal of clinical investigation: JCI ; the publication of the American Society for Clinical Investigation - Ann Arbor, Mich.: ASCJ, Bd. 125 (2015), 9, S. 3585-3599

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement. Letter to the editor
In: Journal of the neurological sciences: official journal of the World Federation of Neurology - Amsterdam [u.a.]: Elsevier Science, Bd. 358 (2015), 1/2, S. 515-517

Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study
In: Gut - London: BMJ Publishing Group, Bd. 64 (2015), 4, S. 646-656

Corrigendum - Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression
In: Frontiers in systems neuroscience - Lausanne : Frontiers Research Foundation - Bd. 9.2015, Art.-Nr. 36, insges. 2 S.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 4, S. 744-751

Recent developments in neurofibromatoses and RASopathies - Management, diagnosis and current and future therapeutic avenues
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 1, S. 1-10

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 2, S. 394-399

Fucosyltransferase 2 (FUT2) "non-secretor"-Status und Blutgruppe B sind assoziiert mit erhöhter Serum Lipase Aktivität und einem erhöhten Risiko für die chronische Pankreatitis - eine genetische Assoziationsstudie
In: Zeitschrift für Gastroenterologie - Stuttgart [u.a.]: Thieme, 1997, Bd. 52.2014, Nr. 8, KG039, insges. 1 S.

Mutagenní vliv vyššího věku otcu u neurokardiofaciokutánního syndromu
In: asopis léka°u eských / eská Lékaská Spolenost Jana Evangelisty Purkyn - Praha: Česká Lékařská Společnost J. E. Purkyně, 1862, Bd. 153.2014, 5, S. 242-245

Clinical utility gene card for: Johanson-Blizzard syndrome
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 22.2014, 1, insges. 3 S.

Johanson-Blizzard syndrome - a report of gender-discordant twins with a novel UBR1 mutation
In: Genetics and molecular research - Ribeirão Preto: FUNPEC, 2002, Bd. 13.2014, 2, S. 4159-4164

Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression
In: Frontiers in systems neuroscience - Lausanne : Frontiers Research Foundation - Bd. 8.2014, Art.-Nr. 140, insges. 12 S.

Genetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory
In: Frontiers in human neuroscience - Lausanne : Frontiers Research Foundation - Bd. 8.2014, Art.-Nr. 260, insges. 12 S.

Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgery
In: Biomarkers in medicine - London: Future Medicine, Bd. 8 (2014), 10, S. 1227-1238

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 164.2014, 12, S. 3213-3214

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 95 (2014), 3, S. 285-293

Juvenile myelomonocytic leukaemia and Noonan syndrome
In: Journal of medical genetics - London: BMJ Publishing Group, 1964, Bd. 51.2014, 10, S. 689-697

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger - from developmental endocrinology to clinical research, Bd. 81 (2014), 3, S. 156-168

Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome - Erfahrungen aus Hamburg
In: Medizinische Genetik - Berlin: Springer, 1998, Bd. 26.2014, 2, S. 246-254

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
In: Human molecular genetics - Oxford: Oxford Univ. Press, 1992, Bd. 23.2014, 16, S. 4315-4327

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 35.2014, 5, S. 521-531

Deletions in the 3' part of the NFIX gene including a recurrent alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 35.2014, 9, S. 1092-1100

Clinical and molecular findings of Tunisian patients with RASopathies
In: Molecular syndromology - Basel: Karger, Bd. 5 (2014), 5, S. 212-217

Johanson-Blizzard syndrome - Hepatic and hematological features with novel genotype
In: Indian journal of gastroenterology - [New Delhi]: Springer India, 1982, Bd. 33.2014, 1, S. 82-84

Fraser syndrome due to mutations in GRIP1 - clinical phenotype in two families and expansion of the mutation spectrum
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 164A.2014, 3, S. 837-840

Pathognomonische Kasuistik des Morbus Osler-Weber-Rendu-Syndroms
In: Der Internist: Organ des Berufsverbandes Deutscher Internisten ; Organ der Deutschen Gesellschaft für Innere Medizin - Berlin: Springer Medizin, 1960, Bd. 54.2013, Suppl. 1, P162, S. 79

Aufmerksamkeitsabhängige Induktion synaptischer Plastizität bei gesunden Probanden und Patienten mit Noonan Syndrom
In: Klinische Neurophysiologie - Stuttgart [u.a.] : Thieme - Bd. 44.2013, 1, P29, insges. 1 S.

Attention dependent induction of synaptic plasticity in healthy controls and patients with Noonan syndrome
In: Clinical neurophysiology - Amsterdam [u.a.]: Elsevier Science, 1999, Bd. 124.2013, 10, P 167, S. e143-e144

Fehlbildungen
In: Fetoneonatale Neurologie - Erkrankungen des Nervensystems von der 20. SSW bis zum 20. Lebensmonat: Erkrankungen des Nervensystems von der 20. SSW bis zum 20. Lebensmonat - Stuttgart [u.a.]: Thieme, 2013 . - 2013, S. 175-216

Ablepharon macrostomia syndrome - a distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 161.2013, 12, S. 3012-3017

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1
In: BMC neurology - London: BioMed Central, Bd. 13.2013, Art.-Nr. 131, insges. 12 S.

Clinical and molecular analysis of RASopathies in a group of Turkish patients
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 83.2013, 2, S. 181-186

Impaired motor cortex plasticity in patients with Noonan syndrome
In: Clinical neurophysiology - Amsterdam [u.a.]: Elsevier Science, Bd. 124 (2013), 12, S. 2439-2444

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 161.2013, 4, S. 889-891

A puzzle over several decades - eye anomalies with FRAS1 and STRA6 mutations in the same family
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 83.2013, 2, S. 162-168

Identification of genetic loci associated with Helicobacter pylori serologic status
In: The journal of the American Medical Association/ American Medical Association - Chicago, Ill.: American Medical Association, Bd. 309 (2013), 18, S. 1912-1920

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS - new aspects of the molecular pathogenesis underlying Costello syndrome
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 22.2013, 8, S. 1643-1653

Johanson-Blizzard syndrome
In: Indian pediatrics - New Delhi: Indian Academy of Pediatrics, Bd. 50 (2013), 5, S. 510-512

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
In: Behavioral and brain functions - London: BioMed Central, Bd. 9 (2013), S. 1-11, insges. 11 S.

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes
In: Human molecular genetics: HMG online - Oxford: Oxford Univ. Press, Bd. 22.2013, 2, S. 262-270

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 56 (2013), 2, S. 108-113

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type. Letter to the editor
In: Nefrología - Madrid: Grupo Aula Medica, Bd. 33 (2013), 5, S. 747-749

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype
In: Child's nervous system. - Berlin : Springer, Bd. 28.2012, 12, S. 2181-2183

Infantile nephrotic syndrome with microcephaly and global developmental delay: The Galloway Mowat Syndrome
In: Indian journal of pediatrics. - [S.l.] : Springer, Bd. 79.2012, 8, S. 1087-1090

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
In: Human mutation. - Hoboken, NJ : Wiley-Blackwell, Bd. 33.2012, 4, S. 665-673

NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome
In: Nefrología - Madrid: Paz Montalvo, Bd. 32 (2012), 5, S. 674-676

Mutations in GRIP1 cause Fraser syndrome
In: Journal of medical genetics - London: BMJ Publishing Group, Bd. 49 (2012), 5, S. 303-306

Oligohydramnios associated with sonographically normal kidneys
In: Urology - New York, NY: Elsevier Science Inc., Bd. 79 (2012), 5, S. 1155-1157

Health and quality of life in adults with Noonan syndrome
In: The journal of pediatrics - New York, NY: Elsevier, Bd. 161 (2012), 3, S. 501-505

A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development
In: Clinical dysmorphology - Hagerstown, Md.: Lippincott Williams & Wilkins, Bd. 21 (2012), 2, S. 74-76

MOTA Syndrome: Molecular genetic confirmation of the diagnosis in a newborn with previously unreported clinical features
In: Molecular syndromology - Basel: Karger, Bd. 3 (2012), 3, S. 136-139

Neonatal progeria - increased ratio of progerin to lamin A leads to progeria of the newborn
In: European journal of human genetics. - Houndmills, Basingstoke : Nature Publ. Group, Bd. 20.2012, 9, S. 933-937

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: A clinical, molecular, and immunohistochemical approach
In: Pediatric and developmental pathology - Los Angeles: Sage, Bd. 15 (2012), 1, S. 50-57

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
In: Pediatric nephrology - Berlin: Springer, Bd. 27 (2012), 5, S. 865-868

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
In: Clinical genetics: an international journal of genetics in medicine - Oxford: Wiley-Blackwell, Bd. 81 (2012), 6, S. 590-594

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 55 (2012), 11, S. 615-619

Bleeding diathesis in Noonan syndrome: Is acquired von Willebrand syndrome the clue?
In: Thrombosis research - Amsterdam [u.a.]: Elsevier Science, Bd. 130.2012, 5, S. e251-e254

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
In: Journal of medical genetics. - London : BMJ Publishing Group, Bd. 48.2011, 6, S. 375-382

Noonan syndrome and clinically related disorders
In: Best practice & research. - Amsterdam : ElsevierBest practice & research / Clinical endocrinology & metabolism, Bd. 25.2011, 1, S. 161-179

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
In: American journal of medical genetics. - Hoboken, NJ : Wiley-LissAmerican journal of medical genetics / C, Bd. 157.2011, 2, S. 129-135

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
In: Current opinion in pediatrics. - Philadelphia, Pa : Lippincott Williams & Wilkins, Bd. 23.2011, 4, S. 443-451

Le syndrome de Pierson, Michel Pierson
In: Archives de pédiatrie. - Paris : Editions Scientifiques Elsevier, Bd. 18.2011, 11, S. 1127-1129

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome
In: PLOS ONE - San Francisco, California, US : PLOS - Bd. 6.2011, 9, Artikel-Nr. e24925, insges. 10 S.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
In: The journal of clinical investigation. - Ann Arbor, Mich : American Society for Clinical Investigation, Bd. 121.2011, 5, S. 2013-2024

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
In: European journal of pediatrics. - Berlin : Springer, Bd. 170.2011, 2, S. 233-235

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
In: American journal of human genetics. - New York, NY [u.a.] : Cell Press, Bd. 88.2011, 5, S. 574-585

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndromelike phenotype and hyperactivated MAPK signaling in humans and mice
In: The journal of clinical investigation - Ann Arbor, Mich. : American Society for Clinical Investigation, Bd. 121 (2011), Heft 9, S. 3479-3491

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
In: Human mutation - Hoboken, NJ : Wiley-Blackwell, Bd. 32 (2011), Heft 1, S. 33-43

Eponym - Johanson-Blizzard syndrome
In: European journal of pediatrics. - Berlin : Springer, Bd. 170.2011, 2, S. 179-183

Johanson-Blizzard syndrome
In: World journal of gastroenterology. - Beijing : WJG Press [u.a.], Bd. 17.2011, 37, S. 4247-4250

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
In: American journal of medical genetics. - Hoboken, NJ : Wiley-LissAmerican journal of medical genetics / A, Bd. 155.2011, 10, S. 2601-2604

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling
In: Genetic counseling. - Genève : Ed. Médecine et Hygiène, Bd. 22.2011, 3, S. 233-244

NEK1 mutations cause short-rib polydactyly syndrome type Majewski
In: American journal of human genetics - New York, NY [u.a.] : Cell Press, Bd. 88 (2011), Heft 1, S. 106-114

Vom Noonan-Syndrom bis zur Neurofibromatose - Erkrankungen des RAS-MAPK-Signalweges
In: Pädiatrische Praxis. - München : Marseille, Bd. 77.2011, 2, S. 333-350

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
In: Nature genetics - New York, NY: Springer Nature, Bd. 42 (2010), Heft 11, S. 1021-1026, insges. 6 S.

Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility
In: International urology and nephrology - Dordrecht [u.a.]: Springer Science + Business Media B.V., Bd. 42 (2010), 4, S. 1131-1134

Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Correspondence
In: Blood: the journal of hematology / American Society of Hematology. William Dameshek, founding ed. - Washington, DC: American Society of Hematology, Bd. 115 (2010), Heft 4, S. 913

Phenotype and natural history in Marshall-Smith syndrome
In: American journal of medical genetics / A - Hoboken, NJ: Wiley-Liss, Bd. 152 (2010), Heft 11, S. 2714-2726

Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum
In: Human mutation: variation, databases, and disease / Human Genome Variation Society - Hoboken, NJ: Wiley-Blackwell, Bd. 31 (2010), Heft 9, S. 992-1002

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 53 (2010), Heft 5, S. 322-324

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
In: American journal of human genetics: AJHG / American Society of Human Genetics - New York, NY [u.a.]: Cell Press, Bd. 87 (2010), Heft 2, S. 250-257

The face of Noonan syndrome: does phenotype predict genotype
In: American journal of medical genetics / A - Hoboken, NJ: Wiley-Liss, Bd. 152 (2010), Heft 8, S. 1960-1966

A restricted spectrum of NRAS mutations causes Noonan syndrome
In: Nature genetics - New York, NY: Springer Nature, Bd. 42 (2010), Heft 1, S. 27-29

Neuro-kardio-fazio-kutane Syndrome - überlappende Phänotypen mit gemeinsamem molekularem Signalweg - interdisziplinäres Betreuungskonzept
In: Medizinische Genetik: Organ der Deutschen Gesellschaft für Humangenetik e.V. - Berlin: de Gruyter, Bd. 22 (2010), Heft 1, S. 10-19

Infantile hypophosphatasie due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
In: Exp Clin Endocrinol Diabetes

A restricted spectrum of NRAS mutations causes Noonan Syndrome.
In: Nat Genet. Epub 2009 Dec 6.

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
In: Am J. Med Genet A. 2009; 149A:2236-40

Genomic duplikation of PTPN11 is an uncommon cause of Noonan syndrome.
In: Am J Med Genet A. 2009; 149A:2122-8.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
In: Nat Genet. 2009; 41:1022-6

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
In: J Mol Med. 2009; 87:849-57.

The spectra of clinical phenotypes in aplasia curtis congentia and terminal transverse limb defects.
In: Am J Med Gent A. 2009; 149A:1860-81.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrom.
In: Am J Med Gent A. 2009; 149A:1263-7.

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
In: Eur J Med Gent. 2009; 52:337-40.

Craniosynostosis in patient with Noonan syndrome caused by germline KRAS mutation.
In: Am J Med Gener A. 2009; 149A: 1036-40

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
In: Êur. J Hum Geneti. 2009; 17:1207-15.

Futher clinical and molecular delineation of the 9q Subtelomeric Deletion _Syndrome syports a major contributation of EHMT1 haploinsufficiency to the core phenotype.
In: J Med Gent. 2009; 46:598-606

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
In: Eur J Hum Genet. 2009; 17:395-400.

Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report.
In: Cases J 2009; 2:94.

SMARCAL1 mutation; A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
In: Pediatr Res. 2009; 65:564-8

Multiple giant cell lesions in patient with Noonan syndrome and cardio-facio-cutaneous syndrome
In: Eur J Hum Genet.

Genetic and pathogenetic aspects of Noonan syndrome and related disorders
In: Hormone research - Basel : Karger - Bd. 72.2009, Suppl. 2, S. 57-63